Variant report

Variant	nsv467749
Chromosome Location	chr11:24109916-24196119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:24160485..24163375-chr11:24163857..24165450,2	MCF-7	breast:
2	chr11:24160485..24163375-chr11:24163857..24165450,2	MCF-7	breast:
3	chr11:23561735..23562349-chr11:24176838..24178049,3	MCF-7	breast:
4	chr11:23993865..23994676-chr11:24177072..24177577,2	MCF-7	breast:

Extended variants
information (count: 693 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573673029	chr11:24110638-24110639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541994001	chr11:24110658-24110659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555545595	chr11:24110686-24110687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34019391	chr11:24110694-24110695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182925742	chr11:24110742-24110743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541321059	chr11:24110755-24110756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566899782	chr11:24110761-24110762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527670174	chr11:24110835-24110836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564466248	chr11:24110841-24110842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186845458	chr11:24110850-24110851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543464538	chr11:24110859-24110860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377400331	chr11:24110881-24110882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72882910	chr11:24110906-24110907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537903952	chr11:24110918-24110919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549158279	chr11:24110951-24110952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147781953	chr11:24111052-24111053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528343667	chr11:24111064-24111065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551681061	chr11:24111076-24111077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571486813	chr11:24111129-24111130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537016820	chr11:24111148-24111149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114114168	chr11:24111214-24111215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550757907	chr11:24111219-24111220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190198221	chr11:24111223-24111224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535954413	chr11:24111256-24111257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552692177	chr11:24111274-24111275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572282123	chr11:24111298-24111299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534920319	chr11:24111311-24111312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536172708	chr11:24111355-24111356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73433922	chr11:24111373-24111374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578201725	chr11:24111415-24111416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs5790385	chr11:24111506-24111507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200929250	chr11:24111507-24111508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543753813	chr11:24111515-24111516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397848093	chr11:24111517-24111518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563541376	chr11:24111541-24111542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141120079	chr11:24111587-24111588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199556010	chr11:24111609-24111610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5790386	chr11:24111610-24111611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370784556	chr11:24111614-24111615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375400522	chr11:24111615-24111616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182100576	chr11:24111624-24111625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537845130	chr11:24111665-24111666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559915760	chr11:24111736-24111737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528280443	chr11:24111762-24111763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551618252	chr11:24111774-24111775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565162202	chr11:24111792-24111793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187522049	chr11:24111793-24111794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550511638	chr11:24111814-24111815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192804976	chr11:24111829-24111830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549755851	chr11:24111864-24111865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24110600-24111400	Enhancers	Fetal Lung	lung
2	chr11:24111400-24114400	Weak transcription	Fetal Lung	lung
3	chr11:24114400-24114600	Enhancers	Fetal Lung	lung
4	chr11:24114400-24114800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:24114400-24114800	Enhancers	HUVEC	blood vessel
6	chr11:24114600-24115000	Flanking Active TSS	Fetal Lung	lung
7	chr11:24114600-24115200	Enhancers	Dnd41	blood
8	chr11:24114600-24115400	Enhancers	Brain Germinal Matrix	brain
9	chr11:24114800-24115000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr11:24115000-24116000	Enhancers	Fetal Lung	lung
11	chr11:24115200-24116000	Enhancers	Fetal Brain Female	brain
12	chr11:24122200-24123200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:24128600-24128800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:24136400-24140400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:24143800-24144200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:24159000-24159800	Enhancers	HUVEC	blood vessel
17	chr11:24163600-24164600	Enhancers	Dnd41	blood
18	chr11:24163600-24164800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:24171600-24172000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:24171800-24172000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:24171800-24172000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:24176400-24177000	Enhancers	Pancreas	Pancrea
23	chr11:24176600-24177200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:24176600-24177400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:24177400-24178000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:24188600-24189400	Enhancers	HUES48 Cell Line	embryonic stem cell

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